Reviewed, UniProtKB/Swiss-Prot Q8N6G6 (ATL1_HUMAN)

Names and origin

Protein names

Recommended name:
    ADAMTS-like protein 1
      Short name=ADAMTSL-1
Alternative name(s):
    Punctin-1

Gene names

Name:	ADAMTSL1
Synonyms:	ADAMTSR1
ORF Names:	UNQ528/PRO1071

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	525 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level.

General annotation (Comments)

Subunit structure	Monomer. Ref.1
Subcellular location	Secreted › extracellular space › extracellular matrix Ref.1.
Tissue specificity	Expressed primarily in adult skeletal muscle. Ref.1
Post-translational modification	Glycosylated. Ref.1 Disulfide bonds are present.
Sequence similarities	Contains 4 TSP type-1 domains.
Caution	Although strongly similar to members of the ADAMTS family it lacks the metalloprotease and disintegrin-like domains which are typical of that family.
Mass spectrometry	Molecular mass is 61935±595 Da from positions 28 - 525. Determined by MALDI. Ref.1

Ontologies

Keywords
Cellular component	Extracellular matrix Secreted
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Repeat Signal
PTM	Disulfide bond Glycoprotein
Technical term	Complete proteome Direct protein sequencing
Gene Ontology (GO)
Cellular component	proteinaceous extracellular matrix Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	metallopeptidase activity Inferred from electronic annotation. Source: InterPro zinc ion binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q8N6G6-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q8N6G6-2)

The sequence of this isoform differs from the canonical sequence as follows:
     362-378: Missing.
     448-456: CTVTCGQGL → VTVPSFFVH
     457-525: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 28	28
	Chain	29 – 525	497	ADAMTS-like protein 1		PRO_0000035860
Regions
	Domain	36 – 82	47	TSP type-1 1
	Domain	301 – 360	60	TSP type-1 2
	Domain	379 – 438	60	TSP type-1 3
	Domain	439 – 493	55	TSP type-1 4
Amino acid modifications
	Glycosylation	251	1	N-linked (GlcNAc...) Potential
	Disulfide bond	45 ↔ 76		By similarity
	Disulfide bond	49 ↔ 81		By similarity
	Disulfide bond	60 ↔ 66		By similarity
Natural variations
	Alternative sequence	362 – 378	17	Missing in isoform 2.		VSP_050616
	Alternative sequence	448 – 456	9	CTVTCGQGL → VTVPSFFVH in isoform 2.		VSP_050617
	Alternative sequence	457 – 525	69	Missing in isoform 2.		VSP_050618
	Natural variant	242	1	S → N: dbSNP rs776755.		VAR_017174
Experimental info
	Sequence conflict	54 – 55	2	SY → AN Ref.1
	Sequence conflict	54 – 55	2	SY → AN Ref.4
	Sequence conflict	208	1	I → L in AAQ88693. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 10, 2005. Version 3. Checksum: 4D797F7ECBD4FC51	FASTA	525	58,416
	10 20 30 40 50 60 MECCRRATPG TLLLFLAFLL LSSRTARSEE DRDGLWDAWG PWSECSRTCG GGASYSLRRC 70 80 90 100 110 120 LSSKSCEGRN IRYRTCSNVD CPPEAGDFRA QQCSAHNDVK HHGQFYEWLP VSNDPDNPCS 130 140 150 160 170 180 LKCQAKGTTL VVELAPKVLD GTRCYTESLD MCISGLCQIV GCDHQLGSTV KEDNCGVCNG 190 200 210 220 230 240 DGSTCRLVRG QYKSQLSATK SDDTVVAIPY GSRHIRLVLK GPDHLYLETK TLQGTKGENS 250 260 270 280 290 300 LSSTGTFLVD NSSVDFQKFP DKEILRMAGP LTADFIVKIR NSGSADSTVQ FIFYQPIIHR 310 320 330 340 350 360 WRETDFFPCS ATCGGGYQLT SAECYDLRSN RVVADQYCHY YPENIKPKPK LQECNLDPCP 370 380 390 400 410 420 ASDGYKQIMP YDLYHPLPRW EATPWTACSS SCGGGIQSRA VSCVEEDIQG HVTSVEEWKC 430 440 450 460 470 480 MYTPKMPIAQ PCNIFDCPKW LAQEWSPCTV TCGQGLRYRV VLCIDHRGMH TGGCSPKTKP 490 500 510 520 HIKEECIVPT PCYKPKEKLP VEAKLPWFKQ AQELEEGAAV SEEPS
	Isoform 2. Checksum: B7155590915B3F3D	FASTA	439	48,764
	10 20 30 40 50 60 MECCRRATPG TLLLFLAFLL LSSRTARSEE DRDGLWDAWG PWSECSRTCG GGASYSLRRC 70 80 90 100 110 120 LSSKSCEGRN IRYRTCSNVD CPPEAGDFRA QQCSAHNDVK HHGQFYEWLP VSNDPDNPCS 130 140 150 160 170 180 LKCQAKGTTL VVELAPKVLD GTRCYTESLD MCISGLCQIV GCDHQLGSTV KEDNCGVCNG 190 200 210 220 230 240 DGSTCRLVRG QYKSQLSATK SDDTVVAIPY GSRHIRLVLK GPDHLYLETK TLQGTKGENS 250 260 270 280 290 300 LSSTGTFLVD NSSVDFQKFP DKEILRMAGP LTADFIVKIR NSGSADSTVQ FIFYQPIIHR 310 320 330 340 350 360 WRETDFFPCS ATCGGGYQLT SAECYDLRSN RVVADQYCHY YPENIKPKPK LQECNLDPCP 370 380 390 400 410 420 ARWEATPWTA CSSSCGGGIQ SRAVSCVEED IQGHVTSVEE WKCMYTPKMP IAQPCNIFDC 430 PKWLAQEWSP VTVPSFFVH

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Punctin, a novel ADAMTS-like molecule, ADAMTSL-1, in extracellular matrix." Hirohata S., Wang L.W., Miyagi M., Yan L., Seldin M.F., Keene D.R., Crabb J.W., Apte S.S. J. Biol. Chem. 277:12182-12189(2002) [PubMed: 11805097] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), PARTIAL PROTEIN SEQUENCE, SUBUNIT, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, GLYCOSYLATION, MASS SPECTROMETRY, DISULFIDE BONDS.
[2]	"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment." Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M. Genome Res. 13:2265-2270(2003) [PubMed: 12975309] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[3]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[4]	"DNA sequence and analysis of human chromosome 9." Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L. , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I. Nature 429:369-374(2004) [PubMed: 15164053] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Lung.
[7]	Mao Y., Xie Y., Zhou Z., Zhao W., Zhao S., Wang W., Huang Y., Wang S., Tang R., Chen X., Wu C. Submitted (MAR-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE OF 214-525.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AF176313 mRNA. Translation: AAK84170.1. AY358327 mRNA. Translation: AAQ88693.1. AK291956 mRNA. Translation: BAF84645.1. AL353895, AL442638, AL449963 Genomic DNA. Translation: CAI14851.1. CH471071 Genomic DNA. Translation: EAW58656.1. BC030262 mRNA. Translation: AAH30262.1. AF251058 mRNA. Translation: AAK34948.1.
IPI	IPI00377098. IPI00414931.
RefSeq	NP_001035362.3. NP_443098.3.
UniGene	Hs.522019
3D structure databases
ModBase	Search...
Protein-protein interaction databases
STRING	Q8N6G6.
Proteomic databases
PRIDE	Q8N6G6.
Genome annotation databases
Ensembl	ENST00000327883; ENSP00000327887; ENSG00000178031; Homo sapiens. [Genome view] ENST00000380548; ENSP00000369921; ENSG00000178031; Homo sapiens. [Genome view]
GeneID	92949.
KEGG	hsa:92949.
UCSC	uc003znb.2. human. uc003znc.2. human.
Organism-specific databases
CTD	92949.
GeneCards	GC09P018464.
H-InvDB	HIX0017990.
HGNC	HGNC:14632. ADAMTSL1.
MIM	609198. gene.
PharmGKB	PA24554.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	HBG507172.
HOVERGEN	Q8N6G6.
InParanoid	Q8N6G6.
Gene expression databases
ArrayExpress	Q8N6G6.
Bgee	Q8N6G6.
CleanEx	HS_ADAMTSL1.
Genevestigator	Q8N6G6.
GermOnline	ENSG00000147892. Homo sapiens.
Family and domain databases
InterPro	IPR013273. Peptidase_M12B_ADAM-TS. IPR000884. Thrombospondin_1_rpt. [Graphical view]
Pfam	PF00090. TSP_1. 3 hits. [Graphical view]
PRINTS	PR01857. ADAMTSFAMILY.
SMART	SM00209. TSP1. 4 hits. [Graphical view]
PROSITE	PS50092. TSP1. 3 hits. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	77924.
SOURCE	Search...

Entry information

Entry name

ATL1_HUMAN

Accession

Primary (citable) accession number: Q8N6G6
Secondary accession number(s): A8K7E1 , Q5T708, Q96RW4, Q9BXY3

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 31, 2003
Last sequence update:	May 10, 2005
Last modified:	December 15, 2009
This is version 68 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.